A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED

NCT03912792 | Withdrawn

• 1 other identifier: DMX101-0001
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The proposed natural history study will enroll male patients with a diagnosis of XLHED, female carriers of XLHED and healthy volunteers. The study protocol will include collection of XLHED questionnaires and clinical outcomes using minimally invasive technologies. Data will be collected both retrospectively and prospectively. Clinical outcome assessments will be performed at the NFED Family Conference on July 11-12, 2019. Study participants will be able to complete XLHED questionnaires electronically ahead of the conference.

Conditions

XLHED

Keywords

Natural History Study; X-Linked Hypohidrotic Ectodermal Dysplasia

Outcome Measures

Primary Outcomes (1)

• The volume of sweat from a pilocarpine-induced sweat test

  Day 1

Study Arms (2)

XLHED Patients

Healthy Controls

Eligibility Criteria

• Age: Up to 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Males with XLHED and female carriers of XLHED Male and female healthy volunteers

You may qualify if:

• Informed Consent
• Males with XLHED, female carriers of XLHED and healthy volunteers

You may not qualify if:

• Treatment with an investigational study drug for XLHED
• Any major medical problems that would prevent her/him from participating in this study
• Known hypersensitivity to pilocarpine or pilocarpine-like muscarinic agonists (Examples: Urecholine, Salagen, Pilocar, and Provocholine)
• Pacemaker

Sponsors & Collaborators

• Dermelix Biotherapeutics, LLC.: lead

Study Sites (1)

Chicago Marriott Lincolnshire Resort

Lincolnshire, Illinois, 60069, United States

Location

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Ectodermal Dysplasia; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Dorothy K Grange, MD

  Washington University School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 10, 2019
• First Posted: April 11, 2019
• Study Start: June 28, 2019
• Primary Completion: September 1, 2019
• Study Completion: September 1, 2019
• Last Updated: July 2, 2019

Record last verified: 2019-06

Locations

US (1)